Canonical Allele Identifier: CA347266360

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828456G>C (hg19) ; chr2:g.73601329G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601329G>C , CM000664.2:g.73601329G>C	GRCh38
NC_000002.11:g.73828456G>C , CM000664.1:g.73828456G>C	GRCh37
NC_000002.10:g.73681964G>C	NCBI36
NG_011690.1:g.220577G>C , LRG_741:g.220577G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11626G>C	ENSP00000507671.1:p.Glu3876Gln
ENST00000682801.1:c.11167-856G>C	ENSP00000507862.1:n.11167-856G>C
ENST00000682859.1:c.11626G>C	ENSP00000508222.1:p.Glu3876Gln
ENST00000683791.1:c.4712G>C
ENST00000684460.1:c.8907G>C
ENST00000684548.1:c.11626G>C	ENSP00000507421.1:p.Glu3876Gln
ENST00000684590.1:c.6073G>C	ENSP00000507376.1:p.Glu2025Gln
ENST00000684656.1:c.9091G>C
ENST00000613296.6:c.12007G>C MANE Select	ENSP00000482968.1:p.Glu4003Gln
ENST00000651057.1:c.2161G>C	ENSP00000498504.1:p.Glu721Gln
ENST00000651434.1:c.3363G>C
ENST00000651750.1:c.1260+448G>C
ENST00000652487.1:c.3178G>C
ENST00000464408.3:n.182G>C
ENST00000484298.5:c.11881G>C	ENSP00000478155.1:p.Glu3961Gln
ENST00000613296.4:c.12007G>C	ENSP00000482968.1:p.Glu4003Gln
ENST00000620466.4:n.5810G>C
NM_015120.4:c.12010G>C , LRG_741t1:c.12010G>C	NP_055935.4:p.Glu4004Gln
NM_001378454.1:c.12007G>C MANE Select	NP_001365383.1:p.Glu4003Gln